Cellosaurus cell line ICGi038-A (CVCL

Cellosaurus ICGi038-A (CVCL_B5EN)

Cross-references
Cell line name	ICGi038-A
Synonyms	FH 5.1.2Sh
Accession	CVCL_B5EN
Resource Identification Initiative	To cite this cell line use: ICGi038-A (RRID:CVCL_B5EN)
Comments	From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:6547; LDLR; Simple; c.940+3_940+6delGAGT; ClinVar=VCV000869390; Zygosity=Heterozygous (PubMed=35152178). Mutation; HGNC; HGNC:6547; LDLR; Simple; p.Arg416Trp (c.1246C>T); ClinVar=VCV000183110; Zygosity=Heterozygous (PubMed=35152178).
Disease	Hyperlipoproteinemia, type IIa (NCIt: C123416) Homozygous familial hypercholesterolemia (ORDO: Orphanet_391665)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	32Y
Category	Induced pluripotent stem cell
Publications	PubMed=35152178; DOI=10.1016/j.scr.2022.102702 Irina S. Zakharova, Alexander I. Shevchenko, Narek A. Tmoyan, Eugeny A. Elisaphenko, Ekaterina S. Zubkova, Aleksei A. Sleptcov, Maria S. Nazarenko, Marat V. Ezhov, Valery V. Kukharchuk, Yelena V. Parfyonova, Suren Minasovich Zakian; Induced pluripotent stem cell line ICGi038-A, obtained by reprogramming peripheral blood mononuclear cells from a patient with familial hypercholesterolemia due to compound heterozygous c.1246C > T/c.940 + 3_940 + 6del mutations in LDLR. Stem Cell Res. 60:102702-102702(2022)
Cell line databases/resources	hPSCreg; ICGi038-A
Biological sample resources	BioSamples; SAMEA11421032
Encyclopedic resources	Wikidata; Q110432915
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	5